Infant’s rare genetic disorder leaves Kenduskeag family trying to breathe

Kim McLellan, 31, of Kenduskeag, lay on the operating table, listening to her daughter scream. She had just been born, and it wasn’t a normal cry. The infant’s voice was raspy. Kim asked the hospital staff, “What’s wrong? What’s wrong?” But no one could tell her.

Two hours later, when Kim was in a recovery room at Eastern Maine Medical Center in Bangor, her partner, Brent Jones, 33, told her that their daughter, Evelyn Jones, had a cleft palate. “Some of it was just a blur because I was in shock,” he said. The doctor tried to reassure them that their daughter would be fine.

Evelyn, now 8 months, will most likely grow up to be a healthy girl. But the situation at that time was more complicated than either the doctor, Kim or Brent knew. No ultrasound had caught the hole in the top of Evelyn’s mouth that opened up into the base of her nose. No exam could have discovered the rare genetic disorder, called Pierre Robin syndrome, that caused the cleft palate in the first place. And no one could have fully prepared the family for what was to come.

That’s why Kim and Brent talked publicly about their experiences: They want to be available to other families who might have a child with Pierre Robin, either to provide a listening ear or advice.

The genetic disorder is characterized by a small jaw, a tongue that falls back in the throat and difficulty breathing. For about the first four months of Evelyn’s life, when she was awake and not drinking, she choked on her tongue every five to 10 minutes, requiring constant supervision. A specialist in Portland considered a tracheotomy but decided against it because she was growing so much. His advice: “You’re just going to have to watch her.”

Kim McLellan feeds her daughter, Evelyn Jones, while her partner, Brent Jones, watches. Evelyn was diagnosed with Pierre Robin Syndrome, a rare genetic disorder, at birth. Credit: Carter F. McCall

Though the frequency of the choking decreased when Evelyn was asleep, Kim and Brent still worried for her life. They fashioned the crib to be on an incline. They turned her on her side and packed the empty space with blankets. They took turns sleeping to watch her. Kim couldn’t drive a car because she couldn’t watch Evelyn every second.

The first time Evelyn choked she was in the hospital, surrounded by hospital staff. Her tongue fell back in her throat, and she turned blue. “I was pretty much hysterical, and they pretty much shooed me out of the nursery,” Kim said. Staff kept watch over her for three days, but it wasn’t until the family visited a plastic surgeon that they learned of the genetic disorder. Sometimes other syndromes accompany Pierre Robin but not in Evelyn’s case.

Pierre Robin is caused when the lower jaw doesn’t develop normally before birth. Usually, at about seven to 10 weeks into a pregnancy, the lower jaw grows quickly, which allows the tongue to drop down from between the two halves of the palate. In Evelyn’s case, the jaw did not grow properly, and her tongue prevented the palate from closing, creating the cleft palate. The smaller lower jaw also positioned the tongue at the back of her mouth, causing the breathing difficulties.

On top of the choking, Evelyn had difficulty eating. She wouldn’t nurse. She couldn’t drink formula because the consistency caused it to come out her nose. So Kim pumped breast milk and tried to feed it to her daughter from a special type of bottle. In the first five days of her life, Evelyn dropped from 8.1 to 6.7 pounds. It wasn’t until Kim tried a different type of bottle, that allowed her to squeeze the milk, drop by drop, into Evelyn’s mouth, that her daughter started gaining weight.

But it took her so long to drink — 45 minutes to consume 3 ounces — that she burned off nearly all the calories by the time she was done. Kim fed her every hour and a half for almost five months, leaving only time for pumping — which she did eight times a day — cleaning the bottles and keeping watch over Evelyn’s breathing. She gave up her work doing medical billing for a chiropractor, and the family tried to adjust from having two working parents with one child — Reid McLellan, 7 — to having one working parent with two children and significant medical bills.

Eight-month-old Evelyn Jones was diagnosed with Pierre Robin syndrome at birth. Credit: Carter F. McCall

They are surviving, they said, because of the goodwill of their family, friends and co-workers. They will continue to need their support as Evelyn prepares for surgery. The hole in the roof of her mouth has narrowed to a slit, Kim said, and doctors believe they can use the skin in her mouth to cover the opening when she’s a few months older. The problem with surgery is that it could slow her progress learning to talk.

Still, Kim is proud of Evelyn’s fighting spirit. Evelyn rolled over at five weeks, started crawling at five months, is already saying “Momma,” has fine motor skills that allow her to pick up a grain of rice and has learned some sign language. She laughs often and loves being held.

Maine doesn’t track the number of babies born with Pierre Robin syndrome, as it’s not a common birth condition, said Patricia Williams, director of the Maine Cleft Lip and Palate Program, part of the Maine Center for Disease Control. Nationally, one in about 8,500 live births has the disorder. Sometimes it results in a cleft palate; sometimes the only sign is a small chin. Only 20 to 25 babies are born each year in Maine with a cleft lip or palate.

There is nothing easy about having a child. And there is especially nothing easy about having a child with Pierre Robin. That’s why Kim and Brent want to make themselves available to others. “We would love to be able to give support and input,” Brent said. It’s that bent toward empathy that will help him and Kim, as parents, ensure that Evelyn thrives.

They may be reached at

Eight-month-old Evelyn Jones with her father, Brent Jones; older brother, Reid McLellan, 7; and mother, Kim McLellan. Credit: Carter F. McCall

Erin Rhoda

About Erin Rhoda

Erin Rhoda is editor of Maine Focus, a journalism and community engagement initiative by the Bangor Daily News.